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Article

Correlation between clinical phenotypes and X-inactivation patterns in six female carriers with heterozygote vasopressin type 2 receptor gene mutations.

Endocrine journal - 1 May 2008

Satoh Mari, Ogikubo Sayaka, Yoshizawa-Ogasawara Atsuko

Abstract excerpt

About 90% of patients with congenital nephrogenic diabetes insipidus (NDI) have vasopressin type 2 receptor (V2R) gene mutations that are inherited in an X-linked recessive manner. Although most female carriers are asymptomatic, some female carriers show polydipsia and polyuria. The reason why female carriers show NDI symptoms is explained by skewed X-inactivation. We studied X-inactivation patterns of six female...

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Share to Diabetes Insipidus, Nephrogenic
Share to Genes, X-Linked

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heterozygote

Share to Infant

Share to Leukocytes, Mononuclear

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Share to Receptors, Vasopressin

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 18323675
DOI: 10.1507/endocrj.k07-083

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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